000179939 001__ 179939
000179939 005__ 20240229145559.0
000179939 0247_ $$2doi$$a10.3390/ijms23095174
000179939 0247_ $$2pmid$$apmid:35563565
000179939 0247_ $$2ISSN$$a1422-0067
000179939 0247_ $$2ISSN$$a1661-6596
000179939 0247_ $$2altmetric$$aaltmetric:128255998
000179939 037__ $$aDKFZ-2022-00988
000179939 041__ $$aEnglish
000179939 082__ $$a540
000179939 1001_ $$aSchedel, Anne$$b0
000179939 245__ $$aRecurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
000179939 260__ $$aBasel$$bMolecular Diversity Preservation International$$c2022
000179939 3367_ $$2DRIVER$$aarticle
000179939 3367_ $$2DataCite$$aOutput Types/Journal article
000179939 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1682432571_10673
000179939 3367_ $$2BibTeX$$aARTICLE
000179939 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000179939 3367_ $$00$$2EndNote$$aJournal Article
000179939 520__ $$aSomatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous RAD21 germline aberration at amino acid position 298 (p.P298S/A) identified in three children with lymphoblastic leukemia or lymphoma in a total dataset of 482 pediatric cancer patients. While RAD21 p.P298S/A did not disrupt the formation of the cohesin complex, it altered RAD21 gene expression, DNA damage response and primary patient fibroblasts showed increased G2/M arrest after irradiation and Mitomycin-C treatment. Subsequent single-cell RNA-sequencing analysis of healthy human bone marrow confirmed the upregulation of distinct cohesin gene patterns during hematopoiesis, highlighting the importance of RAD21 expression within proliferating B- and T-cells. Our clinical and functional data therefore suggest that RAD21 germline variants can predispose to childhood lymphoblastic leukemia or lymphoma without displaying a CdLS phenotype.
000179939 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
000179939 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
000179939 650_7 $$2Other$$aRAD21
000179939 650_7 $$2Other$$aacute lymphoblastic leukemia
000179939 650_7 $$2Other$$acohesin complex
000179939 650_7 $$2Other$$agermline cancer predisposition
000179939 650_7 $$2Other$$atrio sequencing
000179939 7001_ $$aFriedrich, Ulrike Anne$$b1
000179939 7001_ $$00000-0001-5812-9526$$aMorcos, Mina N F$$b2
000179939 7001_ $$aWagener, Rabea$$b3
000179939 7001_ $$aMehtonen, Juha$$b4
000179939 7001_ $$aWatrin, Titus$$b5
000179939 7001_ $$00000-0002-5842-7774$$aSaitta, Claudia$$b6
000179939 7001_ $$aBrozou, Triantafyllia$$b7
000179939 7001_ $$aMichler, Pia$$b8
000179939 7001_ $$aWalter, Carolin$$b9
000179939 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b10$$udkfz
000179939 7001_ $$aBaksi, Arka$$b11
000179939 7001_ $$aMenzel, Maria$$b12
000179939 7001_ $$0P:(DE-He78)5ea1944c122bc098a81df27a05572719$$aHorak, Peter$$b13$$udkfz
000179939 7001_ $$aParamasivam, Nagarajan$$b14
000179939 7001_ $$aFazio, Grazia$$b15
000179939 7001_ $$0P:(DE-He78)50c2928009c788a6a5f3a0708dfb6df5$$aAutry, Robert$$b16$$udkfz
000179939 7001_ $$0P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aFröhling, Stefan$$b17$$udkfz
000179939 7001_ $$00000-0002-9522-8838$$aSuttorp, Meinolf$$b18
000179939 7001_ $$aGertzen, Christoph$$b19
000179939 7001_ $$00000-0001-8613-1447$$aGohlke, Holger$$b20
000179939 7001_ $$00000-0001-6494-7744$$aBhatia, Sanil$$b21
000179939 7001_ $$aWadt, Karin$$b22
000179939 7001_ $$aSchmiegelow, Kjeld$$b23
000179939 7001_ $$00000-0001-9740-0788$$aDugas, Martin$$b24
000179939 7001_ $$0P:(DE-He78)29306fd3ae9f1a9839ed888ebc5c8074$$aRichter, Daniela$$b25$$udkfz
000179939 7001_ $$0P:(DE-He78)157277fe62f07df1732f9d126a51d1b9$$aGlimm, Hanno$$b26$$udkfz
000179939 7001_ $$aHeinäniemi, Merja$$b27
000179939 7001_ $$00000-0002-2972-2192$$aJessberger, Rolf$$b28
000179939 7001_ $$aCazzaniga, Gianni$$b29
000179939 7001_ $$00000-0002-6121-4737$$aBorkhardt, Arndt$$b30
000179939 7001_ $$00000-0002-4058-3058$$aHauer, Julia$$b31
000179939 7001_ $$aAuer, Franziska$$b32
000179939 773__ $$0PERI:(DE-600)2019364-6$$a10.3390/ijms23095174$$gVol. 23, no. 9, p. 5174 -$$n9$$p5174$$tInternational journal of molecular sciences$$v23$$x1422-0067$$y2022
000179939 909CO $$ooai:inrepo02.dkfz.de:179939$$pVDB
000179939 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aDeutsches Krebsforschungszentrum$$b10$$kDKFZ
000179939 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)5ea1944c122bc098a81df27a05572719$$aDeutsches Krebsforschungszentrum$$b13$$kDKFZ
000179939 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)50c2928009c788a6a5f3a0708dfb6df5$$aDeutsches Krebsforschungszentrum$$b16$$kDKFZ
000179939 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aDeutsches Krebsforschungszentrum$$b17$$kDKFZ
000179939 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)29306fd3ae9f1a9839ed888ebc5c8074$$aDeutsches Krebsforschungszentrum$$b25$$kDKFZ
000179939 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)157277fe62f07df1732f9d126a51d1b9$$aDeutsches Krebsforschungszentrum$$b26$$kDKFZ
000179939 9101_ $$0I:(DE-588b)2036810-0$$60000-0002-4058-3058$$aDeutsches Krebsforschungszentrum$$b31$$kDKFZ
000179939 9131_ $$0G:(DE-HGF)POF4-312$$1G:(DE-HGF)POF4-310$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunktionelle und strukturelle Genomforschung$$x0
000179939 9141_ $$y2022
000179939 915__ $$0LIC:(DE-HGF)CCBYNV$$2V:(DE-HGF)$$aCreative Commons Attribution CC BY (No Version)$$bDOAJ$$d2021-05-04
000179939 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2021-05-04
000179939 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2021-05-04
000179939 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2021-05-04
000179939 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2021-05-04
000179939 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2021-05-04
000179939 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2022-09-04T08:27:04Z
000179939 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2022-09-04T08:27:04Z
000179939 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Blind peer review$$d2022-09-04T08:27:04Z
000179939 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bINT J MOL SCI : 2021$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)1150$$2StatID$$aDBCoverage$$bCurrent Contents - Physical, Chemical and Earth Sciences$$d2022-11-25
000179939 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bINT J MOL SCI : 2021$$d2022-11-25
000179939 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x0
000179939 9201_ $$0I:(DE-He78)HD01-20160331$$kHD01$$lDKTK HD zentral$$x1
000179939 9201_ $$0I:(DE-He78)B340-20160331$$kB340$$lTranslationale Medizinische Onkologie$$x2
000179939 9201_ $$0I:(DE-He78)DD01-20160331$$kDD01$$lDKTK DD zentral$$x3
000179939 9201_ $$0I:(DE-He78)MU01-20160331$$kMU01$$lDKTK MU LMU zentral$$x4
000179939 9201_ $$0I:(DE-He78)B280-20160331$$kB280$$lB280 Translationale funktionelle Krebsgenomik$$x5
000179939 980__ $$ajournal
000179939 980__ $$aVDB
000179939 980__ $$aI:(DE-He78)B062-20160331
000179939 980__ $$aI:(DE-He78)HD01-20160331
000179939 980__ $$aI:(DE-He78)B340-20160331
000179939 980__ $$aI:(DE-He78)DD01-20160331
000179939 980__ $$aI:(DE-He78)MU01-20160331
000179939 980__ $$aI:(DE-He78)B280-20160331
000179939 980__ $$aUNRESTRICTED